Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.
Dörk
T
T
Stuhrmann
M
M
Miller
K
K
Schmidtke
J
J
D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006801:Humans; D007223:Infant; D007532:Isoleucine / Q000235:genetics; D008715:Methionine / Q000235:genetics; D009687:Nuclear Proteins; D017354:Point Mutation; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D007532:Isoleucine; D008715:Methionine